R232C (p.Arg232Cys) variant of GNAS (P63092)
R232C (p.Arg232Cys) in GNAS (P63092) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R232C (p.Arg232Cys) variant details
- p.Arg232Cys
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55670
- Ensembl rs2146279110
- Uncertain significance
- not provided; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.78
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available